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Diagnosis of COL2A1 gene-associated diseases (Stickler syndrome type 1, spondyloepiphyseal dysplasia, Kniest dysplasia and others)
Despite our efforts to ensure that data is up to date, this activity has not been validated since 11/08/2009- Pränatalmedizin, Gynäkologie und Genetik - Standort Nürnberg
- Medizinisches Versorgungszentrum
- Bankgasse 3
- 90402 NÜRNBERG
- GERMANY
- Director of laboratory : Dr Sigrun VON DER HAAR
- More information
Last update: August 2009
Responsible of diagnostic test
Purpose(s)
Post-natal diagnosis
Technical procedure(s)
Molecular genetics
Sequence analysis: entire coding region
Sanger sequencing
List of diseases and genes
List of diseases tested
(1)
List of genes tested (including panels)
(1)
Additional information
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.